ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)

gnomAD frequency: 0.00006  dbSNP: rs777626473
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172158 SCV000051087 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000530822 SCV000642543 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172158 SCV000855107 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001358750 SCV001554601 uncertain significance not specified 2021-03-25 criteria provided, single submitter clinical testing Variant summary: TTN c.95932C>T (p.Arg31978Cys) results in a non-conservative amino acid change located in the M-band region (cardiodb.org) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 249128 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (6.8e-05 vs 0.00039), allowing no conclusion about variant significance. c.95932C>T has been reported in the literature in at least one individual affected with Cardiomyopathy (e.g. Lopes_2013). This report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV000172158 SCV001776315 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983)
Revvity Omics, Revvity RCV000172158 SCV003827331 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.